[HTML][HTML] The role of microbiota-gut-brain axis in neuropsychiatric and neurological disorders

K Socała, U Doboszewska, A Szopa, A Serefko… - Pharmacological …, 2021 - Elsevier
Emerging evidence indicates that the gut microbiota play a crucial role in the bidirectional
communication between the gut and the brain suggesting that the gut microbes may shape …

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis

A Jourdon, F Wu, J Mariani, D Capauto, S Norton… - Nature …, 2023 - nature.com
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Early brain development in infants at high risk for autism spectrum disorder

HC Hazlett, H Gu, BC Munsell, SH Kim, M Styner… - Nature, 2017 - nature.com
Brain enlargement has been observed in children with autism spectrum disorder (ASD), but
the timing of this phenomenon, and the relationship between ASD and the appearance of …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019 - cell.com
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …